Methylenetetrahydrofolate Reductase Deficiency in Ischemic Stroke

Epilepsy Clinical Trial

Official title:

Investigation the Incidence of Methylenetetrahydrofolate Reductase Deficiency in Ischemic Cerebrovascular Diseases Presenting With Epileptic Seizures in Adults

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04287881
• Other study ID #: IstanbulMUZEYNEP2
• Status: Completed
• Phase: N/A
• Start date: October 31, 2019
• Est. completion date: February 20, 2020

Study information

• Verified date: February 2020
• Source: Istanbul Medeniyet University
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

Adult onset epileptic seizures is rare and often associated with metabolic disorders, drugs and intracranial pathologies such as ischemia, hemorrhage or space-occupying lesions. Methylenetetrahydrofolate reductase (MTHFR) deficiency is one of the reasons that cause epileptic seizures in adults and can be ignored. MTHFR deficiency is an autosomal recessive disorder that results in hyperhomocysteinemia and causes a predisposition to venous and arterial thrombosis. The incidence of the polymorphism is around 40% in some countries. The aim of the retrospective study is to investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures.

Description:

Epileptic seizures that begin in adulthood seriously affect patients, their relatives and the society in which they live financially and psychologically. The etiology of epileptic seizures starting at adult age includes head trauma, central nervous system infections, intracranial lesions, cerebrovascular events, metabolic diseases and drugs. While the causes of childhood epileptic seizures are generally considered idiopathic, adult-onset epileptic seizures are almost always due to a pathological process. Epileptic seizures in adults may be a symptom of ischemic stroke. MTHFR deficiency is associated with raised homocysteine concentration in the body and increased risk of stroke (1). Studies have demonstrated that hyperhomocysteinemia is an independent risk factor for stroke (2).

MTHFR is the key enzyme in remethylation of homocysteine to methionine. MTHFR deficiency is an autosomal-recessive disease characterized by high homocysteine and low or normal methionine. MTHFR deficiency can cause vascular thrombosis in adults at early age; increased osteoporosis in elderly people; deep vein thrombosis, abortus during pregnancy; and infertility in adult males. In children, it is associated with intrauterine growth retardation, congenital heart diseases, neural tube defects, chromosome anomalies and hematologic tumors. In any age group, it might cause convulsions, increased thrombosis risk with some anticonvulsants and with the use of nitrogen protoxide in surgeries, and neuromotor retardation (3).

The aim of this retrospective study is to investigate the incidence of MTHFR deficiency in patients presenting with adult-onset epileptic seizures and diagnosed as ischemic cerebrovascular disease as a result of diagnostic tests.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 32
• Est. completion date: February 20, 2020
• Est. primary completion date: February 15, 2020
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• The patients with adult-onset epileptic seizures and diagnosed ischemic stroke in 3 years period.

Exclusion Criteria:

• Pediatric patients with epileptic seizures

Related Conditions & MeSH terms

• Epilepsy
• Hyperhomocysteinemia
• Hyperhomocysteinemia, Thrombotic, Cbs-Related
• Ischemia
• Ischemic Stroke
• Stroke

Intervention

Genetic:
• Methylenetetrahydrofolate reductase (MTHFR) deficiency
To investigate the incidence of MTHFR deficiency in patients with adult-onset epileptic seizures and diagnosed ischemic stroke

Locations

Country	Name	City	State
Turkey	Istanbul MU Goztepe Training and Research Hospital	Istanbul
Turkey	Zeynep Orhon	Istanbul

Sponsors (1)

Lead Sponsor	Collaborator
Istanbul Medeniyet University

Country where clinical trial is conducted

Turkey, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Methylenetetrahydrofolate reductase (MTHFR) deficiency	The incidence of methylenetetrahydrofolate reductase (MTHFR) deficiency in ischemic stroke	Up to 6 weeks